Results 151 to 160 of about 23,951 (234)

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]

Genes (Basel)
Turczyn A, Krzemień G, Nguyen D.
europepmc   +1 more source

Reducing harm caused by substance use in adolescents. [PDF]

, 2007
Baer, Miriam de Leon, Renato Souza, Slesnick, Slesnick, Toumbourou   +5 more
core   +1 more source

Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease

Kidney International Reports, 2021
E. Letavernier, Madeline Schwoehrer, M. Livrozet, Camille Saint-Jacques, L. Raymond, R. Saraeva, J. Haymann, V. Frochot, M. Daudon, L. Mesnard   +9 more
semanticscholar   +1 more source

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. [PDF]

Mol Cell Pediatr
Elaraby NM, Metwally AM, Sayed SM, Ashaat NA, Gamal M, Hussen DF, Abuelela S, Ramadan A, Kobesiy MM, Shaker MM, Elgebaly H, Elnady HG, Gammal ME, Ashaat EA.   +13 more
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

Results of Multigene Panel Testing, Including <i>PKD1</i>, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis. [PDF]

Kidney Med
Tapper EE, Huusko JM, Scocchia AM, Gall K, Roberts MB, Bernal-Quirós M, Valo S, Saarinen I, Rantanen M, Pietila T, Gentile M, Koskinen L, Kumar MM, Myllykangas S, Koskenvuo J.   +14 more
europepmc   +1 more source

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man. [PDF]

Cureus
Khorsan R, Arman F, Sarkar M.
europepmc   +1 more source

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives. [PDF]

Kidney Med
Soyfer B, Fedeles S, Ruyle W, Hoover E, Liebau MC, Hartung EA, Dell KM, Guay-Woodford LM, Perrone RD, Oberdhan D.   +9 more
europepmc   +1 more source

Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease

Abdominal Radiology, 2020
Erum A. Hartung, J. Calle-Toro, C. M. Lopera, Jessica W. Wen, R. Carson, Mohini Dutt, Kathryn Howarth, S. Furth, K. Darge, S. Serai   +9 more
semanticscholar   +1 more source

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]

Case Rep Dent
Saygili S, Kasimoglu Y.
europepmc   +1 more source